NM_000432.4(MYL2):c.449T>C (p.Leu150Ser) AND Cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 22, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001187726.3
Allele description [Variation Report for NM_000432.4(MYL2):c.449T>C (p.Leu150Ser)]
NM_000432.4(MYL2):c.449T>C (p.Leu150Ser)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
Assertion and evidence details
Last Updated: Mar 26, 2023